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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

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Figure 1: Mutation in the SF-1 DNA-binding domain.
Figure 2: Functional analyses of mutant SF-1.

References

  1. Parker, K.L. & Schimmer, B.P. Endocr. Rev. 18, 361–377 (1997).

    Article  CAS  Google Scholar 

  2. Luo, X., Ikeda, Y. & Parker, K.L. Cell 77, 481–490 (1994).

    Article  CAS  Google Scholar 

  3. Wong, M., Ramayya, M.S., Chrousos, G.P., Driggers, P.H. & Parker, K.L. J. Mol. Endocrinol. 17, 139–147 (1996).

    Article  CAS  Google Scholar 

  4. Mader, S., Kumar, V., de Verneuil, H. & Chambon, P. Nature 338, 271–274 (1989).

    Article  CAS  Google Scholar 

  5. Lala, D.S., Rice, D.A. & Parker, K.L. Mol. Endocrinol. 6, 1249–1258 (1992).

    CAS  PubMed  Google Scholar 

  6. Giuili, G., Shen, W.H. & Ingraham, H.A. Development 124, 1799–1807 (1997).

    CAS  PubMed  Google Scholar 

  7. Bardoni, B. et al. Nature Genet. 7, 497–501 (1994).

    Article  CAS  Google Scholar 

  8. Foster, J.W. et al. Nature 372, 525–530 (1994).

    Article  CAS  Google Scholar 

  9. Pelletier, J. et al. Cell 67, 437–447 (1991).

    Article  CAS  Google Scholar 

  10. Barbaux, S. et al. Nature Genet. 17, 467–470 (1997).

    Article  CAS  Google Scholar 

  11. Swain, A., Narvaez, V., Burgoyne, P., Camerino, G. & Lovell-Badge, R. Nature 391, 761–767 (1998).

    Article  CAS  Google Scholar 

  12. Kreidberg, J.A. et al. Cell 74, 679–691 (1993).

    Article  CAS  Google Scholar 

  13. Nachtigal, M.W. et al. Cell 93, 445–454 (1998).

    Article  CAS  Google Scholar 

  14. Ito, M., Yu, R.N., Jameson, J.L. & Ito, M. J. Biol. Chem. 274, 9029–9037 (1999).

    Article  CAS  Google Scholar 

  15. Clemens, J.W., Lala, D.S., Parker, K.L. & Richards, J.S. Endocrinology 134, 1499–1508 (1994).

    Article  CAS  Google Scholar 

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Acknowledgements

We thank G. Chrousos, M. Ramayya, K. Morohashi, C.G.D. Brook, E.J. Lee, R. Yu, L. Sabacan and T. Kotlar. J.C.A. acknowledges funding from the Special Trustees of the Middlesex Hospital and Endocrine Fellows Foundation. This work was performed as part of the National Cooperative Program for Infertility Research (NIH grant U54-HD-29164) and PO1 HD21921.

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Correspondence to J. Larry Jameson.

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Achermann, J., Ito, M., Ito, M. et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22, 125–126 (1999). https://doi.org/10.1038/9629

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